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Toward Precision Medicine Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease (2011) / Chapter Skim
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Appendix A: The Statement of Task with Additional Context
Pages 93-96

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From page 93...
... The workshop participants will also consider the essential elements of the framework by addressing topics that include, but are not limited to: • Compiling the huge diversity of extant data from molecular studies of human disease to assess what is known, identify gaps, and recommend priorities to fill these gaps. • Developing effective and acceptable mechanisms and policies for se lection, collection, storage, and management of data, as well as means to provide access to and interpret these data.
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From page 94...
... Although diagnostics have begun to embrace the identification and measurement of mo lecular disease mechanisms, the classification of disease is still largely based on phenotypic factors, or "signs and symptoms." Assigning a name to a disease is not necessarily accompanied by a clear understanding of its biochemical causes or of the variations in disease manifestations among patients. Remarkable advances in molecular biology have brought biomedical re search to an "inflection point," putting the life sciences at the cusp of delivering dramatic improvements in understanding disease to reap the health benefits that formed the rationale for the Human Genome Project.
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From page 95...
... Some are also vast, e.g., the compilation of current knowledge and the scientific research efforts needed to fill gaps. Undertaking such a program would clearly require the participation and collaboration of many government and private entities over a considerable period of time.
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  • phenotypic factors
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  • network relationships
  • human disease

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  • delivering dramatic
  • molecular genetics
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  • dramatic improvements


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